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Article

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

21 Oct 2019

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 31636325
DOI: 10.1038/s10038-019-0686-1

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Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesiaPMID 31636325Read ↗

The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variantsSemantic proximity Read ↗

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical PracticeSemantic proximity Read ↗

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Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.Semantic proximity Read ↗

Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.Semantic proximity Read ↗

Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutationsSemantic proximity Read ↗

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertilitySemantic proximity Read ↗

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Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan.Semantic proximity Read ↗

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